Canonical Allele Identifier: CA466648957
Gene: ALG2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.101983874C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.99221592C>G , CM000671.2:g.99221592C>G GRCh38
NC_000009.11:g.101983874C>G , CM000671.1:g.101983874C>G GRCh37
NC_000009.10:g.101023695C>G NCBI36
NG_008928.1:g.5373G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000476832.2:c.303G>C MANE Select ENSP00000417764.1:p.Val101=
ENST00000238477.5:c.303G>C ENSP00000432675.2:p.Val101=
ENST00000476832.1:c.303G>C ENSP00000417764.1:p.Val101=
NM_033087.3:c.303G>C NP_149078.1:p.Val101=
NR_024532.1:n.373G>C
NM_033087.4:c.303G>C MANE Select NP_149078.1:p.Val101=
NR_024532.2:n.351G>C